Premium
Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families
Author(s) -
Bentivoglio Anna R.,
Cortelli Pietro,
Valente Enza M.,
Ialongo Tàmara,
Ferraris Alessandro,
Elia Antonio,
Montagna Pasquale,
Albanese Alberto
Publication year - 2001
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10034
Subject(s) - parkinsonism , age of onset , pediatrics , dysautonomia , levodopa , degenerative disease , medicine , dyskinesia , disease , central nervous system disease , parkinson's disease , psychology
The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.